Patient Worthy partner HCU Network America and RARE X, a rare disease patient data service organization, have recently partnered in order to create a registry of patients living with homocystinuria, a rare disease. HCU Network Australia will also collaborate as part of the data collection initiative. Data from this registry should help researchers gain a better understanding of the disorder and even contribute to the development of future treatments.
About Homocystinuria
Homocystinuria is a rare genetic disorder in which a deficiency of an enzyme called cystathionine beta synthase leads to inhibited metabolism of an amino acid called methionine. Deficiencies affecting folate and vitamins B6 and B12 can also cause symptoms to appear. The disorder can lead to major signs and symptoms affecting multiple body systems. These symptoms include various eye problems (myopia, glaucoma, optical atrophy), abnormal chest shape (pectus excavatum or carinatum), vascular disease (thrombosis, atheroma), psychiatric problems, flushed cheeks, seizures, and intellectual disability. Patients often have a thin, tall build, high arched feet, knock knees, and long limbs. There is no known cure for homocystinuria, with many interventions being symptomatic and supportive. Around half of patients appear to benefit from high doses of vitamin B6, and continue this supplementation for life. Other options include a diet low in sulfur and protein, cysteine and folic acid supplementation, and trimethylglycine. To learn more about homocystinuria, click here.
Partnering to Make a Difference
Danae Bartke, co-founder and executive director of HCU Network America, was diagnosed with the disease at birth. It was around this time that the first natural history study of the disorder was completed. However, the disease is still not very well understood, and patients may not always know how to attribute new symptoms as they appear; are they a part of the disease, or something else? It’s a question patients often find impossible to answer.
Danae knew from the beginning that registries could be valuable tools, but she didn’t really know where to begin. This is where the capabilities of RARE X come into play. The partnership was a perfect fit. Since homocystinuria has a relatively small patient population and community, many other arrangements for getting a registry up and running required either steep costs or manpower requirements that weren’t easy to come by.
“With RARE-X, we love that the data does not exist in silos, that it’s accessible, and also that patients have the power to say who has access to that information. It’s important to have platforms that allow patients to make those decisions for themselves, not someone else who doesn’t know that patient directly making those decisions for them.” – Danae Bartke, Executive Director, HCU Network
